Linked Data
ClinVar Variation Id:
60768
ClinVar RCV Id:
RCV000054538
RCV000171064
RCV000234993
RCV000766769
RCV000620098
RCV001853079
RCV002477176
dbSNP Id:
rs72550247
ExAC:
19:35530029 G / A
gnomAD v2:
19-35530029-G-A
gnomAD v3:
19-35039125-G-A
gnomAD v4:
19-35039125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35039125G>A , CM000681.2:g.35039125G>A | GRCh38 |
| NC_000019.9:g.35530029G>A , CM000681.1:g.35530029G>A | GRCh37 |
| NC_000019.8:g.40221869G>A | NCBI36 |
| NG_013359.1:g.13438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262631.11:c.457G>A MANE Select | ENSP00000262631.3:p.Asp153Asn | |
| ENST00000596348.2:c.358G>A | ENSP00000492247.1:p.Asp120Asn | |
| ENST00000602150.2:n.2227G>A | ||
| ENST00000638536.1:c.457G>A | ENSP00000492022.1:p.Asp153Asn | |
| ENST00000639260.1:n.1270G>A | ||
| ENST00000675741.1:c.484G>A | ENSP00000502395.1:p.Asp162Asn | |
| ENST00000676410.1:c.*175G>A | ENSP00000502717.1:n.*175G>A | |
| ENST00000262631.9:c.457G>A | ENSP00000262631.3:p.Asp153Asn | |
| ENST00000595652.5:c.244G>A | ENSP00000468848.1:p.Asp82Asn | |
| ENST00000596348.1:n.466G>A | ||
| ENST00000602150.1:n.2227G>A | ||
| NM_001037.4:c.457G>A | NP_001028.1:p.Asp153Asn | |
| XM_005259144.1:c.358G>A | XP_005259201.1:p.Asp120Asn | |
| NM_001321605.1:c.358G>A | NP_001308534.1:p.Asp120Asn | |
| NM_001037.5:c.457G>A MANE Select | NP_001028.1:p.Asp153Asn | |
| NM_001321605.2:c.358G>A | NP_001308534.1:p.Asp120Asn |